title: Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier.
abstract: OBJECTIVE
  To directly study the meiotic segregation of a complex reciprocal translocation (CCR) as well as the occurrence of an interchromosomal effect.
  
  
  METHODS
  In situ sperm fluorescence in situ hybridization (FISH) analysis.
  
  
  METHODS
  Department of Cytogenetics and INSERM research center.
  
  
  METHODS
  A male carrier of a balanced complex reciprocal translocation t(5;13;14)(q23;q21;q31).
  
  
  METHODS
  Sperm samples from the carrier and direct FISH analysis on sperm slide preparations.
  
  
  METHODS
  Meiotic segregation pattern determined on sperm nuclei and estimation of the incidence of unbalanced spermatozoa and an interchromosomal effect (ICE).
  
  
  RESULTS
  Only 27% of spermatozoa displayed a normal or balanced chromosome complement. The rate of unbalanced sperm was 69.4%, including different types of 3:3, 4:2, and 5:1 segregations. There was no evidence for the occurrence of an interchromosomal effect in autosomal chromosomes, but the gonosomes displayed a statistically significant increase in disomy rates.
  
  
  CONCLUSIONS
  These results are consistent with the formation of a hexavalent configuration at the pachytene stage of meiosis and a high prevalence of imbalance production. The mechanisms of formation of CCRs must be examined with regard to these direct results and new molecular data on the formation of genomic rearrangements.
authors.affiliation: INSERM U 847, Institute for Research in Biotherapy, CHRU Montpellier, Université Montpellier 1, and Department of Cytogenetics, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France. f-pellestor@chu-montpellier.fr
authors.forename: Franck
authors.initials: F
authors.lastname: Pellestor
authors.forename: Jacques
authors.initials: J
authors.lastname: Puechberty
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Geneviève
authors.initials: G
authors.lastname: Lefort
authors.forename: Tal
authors.initials: T
authors.lastname: Anahory
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations; D020090:Chromosome Segregation; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008540:Meiosis / Q000235:genetics*; D011247:Pregnancy; D013076:Sperm Count; D013081:Sperm Motility; D013094:Spermatozoa / Q000473:pathology*; D014178:Translocation, Genetic